Canonical Allele Identifier: CA350933
Gene: MAN2B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 208258
ClinVar RCV Id: RCV000206936
dbSNP Id: rs763257568

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12663781G>A , CM000681.2:g.12663781G>A GRCh38
NC_000019.9:g.12774595G>A , CM000681.1:g.12774595G>A GRCh37
NC_000019.8:g.12635595G>A NCBI36
NG_008318.1:g.7997C>T
NG_015814.1:g.1978G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000456935.7:c.685C>T MANE Select ENSP00000395473.2:p.Arg229Trp
ENST00000221363.8:c.685C>T ENSP00000221363.4:p.Arg229Trp
ENST00000456935.6:c.685C>T ENSP00000395473.2:p.Arg229Trp
ENST00000466794.5:n.667C>T
ENST00000486847.2:c.388C>T ENSP00000470174.1:p.Arg130Trp
NM_000528.3:c.685C>T NP_000519.2:p.Arg229Trp
NM_001173498.1:c.685C>T NP_001166969.1:p.Arg229Trp
XM_005259913.1:c.685C>T XP_005259970.1:p.Arg229Trp
XM_005259913.2:c.685C>T XP_005259970.1:p.Arg229Trp
XM_024451518.1:c.-334C>T XP_024307286.1:p.=
NM_000528.4:c.685C>T MANE Select NP_000519.2:p.Arg229Trp
NM_001173498.2:c.685C>T NP_001166969.1:p.Arg229Trp